A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196228



Internal ID22346274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:164233998..164243404hg38UCSC Ensembl
Outerchr5:163661004..163670410hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg389407
hg199407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273700
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196228
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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